William B. Dobyns - Publications

Affiliations: 
Human Genetics University of Chicago, Chicago, IL 
Area:
Pediatric Neurology

193 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2016 Berg AT, Dobyns WB. Progress in autism research and postgenomic studies - Authors' reply The Lancet Neurology. 15: 136-137. DOI: 10.1016/S1474-4422(15)00403-2  0.64
2016 Mirzaa GM, Collins S, Dobyns WB. Corrigendum to "Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature. Am J Med Genet Part A 2014 164A:2879-86" American Journal of Medical Genetics, Part A. 170: 547. DOI: 10.1002/ajmg.a.37449  0.64
2015 Roy A, Skibo J, Kalume F, Ni J, Rankin S, Lu Y, Dobyns WB, Mills GB, Zhao JJ, Baker SJ, Millen KJ. Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy. Elife. 4. PMID 26633882 DOI: 10.7554/eLife.12703  0.64
2015 Mirzaa GM, Conti V, Timms AE, Smyser CD, Ahmed S, Carter M, Barnett S, Hufnagel RB, Goldstein A, Narumi-Kishimoto Y, Olds C, Collins S, Johnston K, Deleuze JF, Nitschké P, ... ... Dobyns WB, et al. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. The Lancet. Neurology. PMID 26520804 DOI: 10.1016/S1474-4422(15)00278-1  0.64
2015 Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, et al. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. Human Mutation. PMID 26507355 DOI: 10.1002/humu.22924  0.64
2015 Leto K, Arancillo M, Becker EB, Buffo A, Chiang C, Ding B, Dobyns WB, Dusart I, Haldipur P, Hatten ME, Hoshino M, Joyner AL, Kano M, Kilpatrick DL, Koibuchi N, et al. Consensus Paper: Cerebellar Development. Cerebellum (London, England). PMID 26439486 DOI: 10.1007/s12311-015-0724-2  0.64
2015 McMahon KQ, Papandreou A, Ma M, Barry BJ, Mirzaa GM, Dobyns WB, Scott RH, Trump N, Kurian MA, Paciorkowski AR. Familial recurrences of FOXG1-related disorder: Evidence for mosaicism. American Journal of Medical Genetics. Part A. PMID 26364767 DOI: 10.1002/ajmg.a.37353  0.64
2015 Oegema R, Cushion TD, Phelps IG, Chung SK, Dempsey JC, Collins S, Mullins JG, Dudding T, Gill H, Green AJ, Dobyns WB, Ishak GE, Rees MI, Doherty D. Recognisable cerebellar dysplasia associated with mutations in multiple tubulin genes. Human Molecular Genetics. PMID 26130693 DOI: 10.1093/hmg/ddv250  0.64
2015 Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, et al. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife. 4. PMID 26026149 DOI: 10.7554/eLife.06602  0.64
2015 Roth CL, Eslamy H, Werny D, Elfers C, Shaffer ML, Pihoker C, Ojemann J, Dobyns WB. Semiquantitative analysis of hypothalamic damage on MRI predicts risk for hypothalamic obesity. Obesity (Silver Spring, Md.). 23: 1226-33. PMID 25884561 DOI: 10.1002/oby.21067  0.64
2015 Hansen J, Snow C, Tuttle E, Ghoneim DH, Yang CS, Spencer A, Gunter SA, Smyser CD, Gurnett CA, Shinawi M, Dobyns WB, Wheless J, Halterman MW, Jansen LA, Paschal BM, et al. De novo mutations in SIK1 cause a spectrum of developmental epilepsies. American Journal of Human Genetics. 96: 682-90. PMID 25839329 DOI: 10.1016/j.ajhg.2015.02.013  0.64
2015 Luks VL, Kamitaki N, Vivero MP, Uller W, Rab R, Bovée JV, Rialon KL, Guevara CJ, Alomari AI, Greene AK, Fishman SJ, Kozakewich HP, Maclellan RA, Mulliken JB, Rahbar R, ... ... Dobyns WB, et al. Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA. The Journal of Pediatrics. 166: 1048-54.e1-5. PMID 25681199 DOI: 10.1016/j.jpeds.2014.12.069  0.64
2015 Paciorkowski AR, McDaniel SS, Jansen LA, Tully H, Tuttle E, Ghoneim DH, Tupal S, Gunter SA, Vasta V, Zhang Q, Tran T, Liu YB, Ozelius LJ, Brashear A, Sweadner KJ, ... Dobyns WB, et al. Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly. Epilepsia. 56: 422-30. PMID 25656163 DOI: 10.1111/epi.12914  0.64
2015 Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. American Journal of Medical Genetics. Part A. 167: 287-95. PMID 25557259 DOI: 10.1002/ajmg.a.36836  0.64
2015 De Ciantis A, Barkovich AJ, Cosottini M, Barba C, Montanaro D, Costagli M, Tosetti M, Biagi L, Dobyns WB, Guerrini R. Ultra-high-field MR imaging in polymicrogyria and epilepsy. Ajnr. American Journal of Neuroradiology. 36: 309-16. PMID 25258368 DOI: 10.3174/ajnr.A4116  0.64
2015 Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, ... ... Dobyns WB, et al. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. European Journal of Human Genetics : Ejhg. 23: 292-301. PMID 25052316 DOI: 10.1038/ejhg.2014.95  0.64
2015 Barkovich AJ, Dobyns WB, Guerrini R. Malformations of cortical development and epilepsy Cold Spring Harbor Perspectives in Medicine. 5. DOI: 10.1101/cshperspect.a022392  0.64
2015 Berg AT, Dobyns WB. Progress in autism and related disorders of brain development The Lancet Neurology. DOI: 10.1016/S1474-4422(15)00048-4  0.64
2015 Di Donato N, Rump A, Mirzaa GM, Alcantara D, Oliver A, Schrock E, Dobyns WB, O'Driscoll M. Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum" Human Mutation. DOI: 10.1002/humu.22933  0.36
2014 Mishra-Gorur K, Ça?layan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümü? GT, Nishimura S, Han W, Tu S, Baran B, Gümü? H, Dilber C, Zaki MS, Hossni HA, ... ... Dobyns WB, et al. Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. Neuron. 84: 1226-39. PMID 25521378 DOI: 10.1016/j.neuron.2014.12.014  0.64
2014 Yamamoto S, Jaiswal M, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, ... ... Dobyns WB, et al. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 159: 200-14. PMID 25259927 DOI: 10.1016/j.cell.2014.09.002  0.64
2014 French CR, Seshadri S, Destefano AL, Fornage M, Arnold CR, Gage PJ, Skarie JM, Dobyns WB, Millen KJ, Liu T, Dietz W, Kume T, Hofker M, Emery DJ, Childs SJ, et al. Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease. The Journal of Clinical Investigation. 124: 4877-81. PMID 25250569 DOI: 10.1172/JCI75109  0.64
2014 Kakar N, Ahmad J, Morris-Rosendahl DJ, Altmüller J, Friedrich K, Barbi G, Nürnberg P, Kubisch C, Dobyns WB, Borck G. STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly Human Genetics. 134: 45-51. PMID 25218063 DOI: 10.1007/s00439-014-1487-4  0.64
2014 Guerrini R, Dobyns WB. Malformations of cortical development: Clinical features and genetic causes The Lancet Neurology. 13: 710-726. PMID 24932993 DOI: 10.1016/S1474-4422(14)70040-7  0.64
2014 Seltzer LE, Ma M, Ahmed S, Bertrand M, Dobyns WB, Wheless J, Paciorkowski AR. Epilepsy and outcome in FOXG1-related disorders. Epilepsia. 55: 1292-300. PMID 24836831 DOI: 10.1111/epi.12648  0.64
2014 Mirzaa GM, Vitre B, Carpenter G, Abramowicz I, Gleeson JG, Paciorkowski AR, Cleveland DW, Dobyns WB, O'Driscoll M. Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. Human Genetics. 133: 1023-39. PMID 24748105 DOI: 10.1007/s00439-014-1443-3  0.64
2014 Mirzaa GM, Parry DA, Fry AE, Giamanco KA, Schwartzentruber J, Vanstone M, Logan CV, Roberts N, Johnson CA, Singh S, Kholmanskikh SS, Adams C, Hodge RD, Hevner RF, Bonthron DT, ... ... Dobyns WB, et al. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nature Genetics. 46: 510-5. PMID 24705253 DOI: 10.1038/ng.2948  0.64
2014 Cushion TD, Paciorkowski AR, Pilz DT, Mullins JG, Seltzer LE, Marion RW, Tuttle E, Ghoneim D, Christian SL, Chung SK, Rees MI, Dobyns WB. De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy. American Journal of Human Genetics. 94: 634-41. PMID 24702957 DOI: 10.1016/j.ajhg.2014.03.009  0.64
2014 Mirzaa GM, Millen KJ, Barkovich AJ, Dobyns WB, Paciorkowski AR. The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications. American Journal of Medical Genetics. Part A. 164: 1503-11. PMID 24700709 DOI: 10.1002/ajmg.a.36517  0.64
2014 Johnston JJ, Sapp JC, Curry C, Horton M, Leon E, Cusmano-Ozog K, Dobyns WB, Hudgins L, Zackai E, Biesecker LG. Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. American Journal of Medical Genetics. Part A. 164: 120-8. PMID 24259342 DOI: 10.1002/ajmg.a.36212  0.64
2014 Paciorkowski AR, Weisenberg J, Kelley JB, Spencer A, Tuttle E, Ghoneim D, Thio LL, Christian SL, Dobyns WB, Paschal BM. Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation. European Journal of Human Genetics : Ejhg. 22: 587-93. PMID 24045845 DOI: 10.1038/ejhg.2013.196  0.64
2014 Cacciagli P, Desvignes JP, Girard N, Delepine M, Zelenika D, Lathrop M, Lévy N, Ledbetter DH, Dobyns WB, Villard L. AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). European Journal of Human Genetics : Ejhg. 22: 363-8. PMID 23756445 DOI: 10.1038/ejhg.2013.135  0.64
2014 Tully HM, Dobyns WB. Infantile hydrocephalus: A review of epidemiology, classification and causes European Journal of Medical Genetics. 57: 359-368. DOI: 10.1016/j.ejmg.2014.06.002  0.64
2014 Mirzaa GM, Enyedi L, Parsons G, Collins S, Medne L, Adams C, Ward T, Davitt B, Bicknese A, Zackai E, Toriello H, Dobyns WB, Christian S. Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature American Journal of Medical Genetics, Part A. 164: 2879-2886. DOI: 10.1002/ajmg.a.36707  0.64
2013 Shiba N, Daza RA, Shaffer LG, Barkovich AJ, Dobyns WB, Hevner RF. Neuropathology of brain and spinal malformations in a case of monosomy 1p36. Acta Neuropathologica Communications. 1: 45. PMID 24252393 DOI: 10.1186/2051-5960-1-45  0.64
2013 Tully HM, Dempsey JC, Ishak GE, Adam MP, Mink JW, Dobyns WB, Gospe SM, Weiss A, Phillips JO, Doherty D. Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis. Movement Disorders : Official Journal of the Movement Disorder Society. 28: 2019-23. PMID 24105968 DOI: 10.1002/mds.25634  0.64
2013 Sajan SA, Fernandez L, Nieh SE, Rider E, Bukshpun P, Wakahiro M, Christian SL, Rivière JB, Sullivan CT, Sudi J, Herriges MJ, Paciorkowski AR, Barkovich AJ, Glessner JT, Millen KJ, ... ... Dobyns WB, et al. Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. Plos Genetics. 9: e1003823. PMID 24098143 DOI: 10.1371/journal.pgen.1003823  0.64
2013 Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, ... ... Dobyns WB, et al. Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Brain : a Journal of Neurology. 136: 3378-94. PMID 24056535 DOI: 10.1093/brain/awt249  0.64
2013 Gripp KW, Zand DJ, Demmer L, Anderson CE, Dobyns WB, Zackai EH, Denenberg E, Jenny K, Stabley DL, Sol-Church K. Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis American Journal of Medical Genetics, Part A. 161: 2420-2430. PMID 23918763 DOI: 10.1002/ajmg.a.36098  0.64
2013 Curry CJ, Rosenfeld JA, Grant E, Gripp KW, Anderson C, Aylsworth AS, Saad TB, Chizhikov VV, Dybose G, Fagerberg C, Falco M, Fels C, Fichera M, Graakjaer J, Greco D, ... ... Dobyns WB, et al. The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. American Journal of Medical Genetics. Part A. 161: 1833-52. PMID 23813913 DOI: 10.1002/ajmg.a.35996  0.64
2013 Mirzaa GM, Dobyns WB. The "megalencephaly-capillary malformation" (MCAP) syndrome: The nomenclature of a highly recognizable multiple congenital anomaly syndrome American Journal of Medical Genetics, Part A. 161: 2115-2116. PMID 23798482 DOI: 10.1002/ajmg.a.35940  0.64
2013 Swarr DT, Khalek N, Treat J, Horton MA, Mirzaa GM, Riviere JB, Dobyns WB, Zackai EH. Expanding the differential diagnosis of fetal hydrops: An unusual prenatal presentation of megalencephaly-capillary malformation syndrome Prenatal Diagnosis. 33: 1010-1012. PMID 23754335 DOI: 10.1002/pd.4178  0.64
2013 Woodbine L, Neal JA, Sasi NK, Shimada M, Deem K, Coleman H, Dobyns WB, Ogi T, Meek K, Davies EG, Jeggo PA. PRKDC mutations in a SCID patient with profound neurological abnormalities. The Journal of Clinical Investigation. 123: 2969-80. PMID 23722905 DOI: 10.1172/JCI67349  0.64
2013 Paciorkowski AR, Keppler-Noreuil K, Robinson L, Sullivan C, Sajan S, Christian SL, Bukshpun P, Gabriel SB, Gleeson JG, Sherr EH, Dobyns WB. Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption. American Journal of Medical Genetics. Part A. 161: 1523-30. PMID 23704059 DOI: 10.1002/ajmg.a.35969  0.64
2013 Darbro BW, Mahajan VB, Gakhar L, Skeie JM, Campbell E, Wu S, Bing X, Millen KJ, Dobyns WB, Kessler JA, Jalali A, Cremer J, Segre A, Manak JR, Aldinger KA, et al. Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles. Human Mutation. 34: 1075-9. PMID 23674478 DOI: 10.1002/humu.22351  0.64
2013 Mirzaa GM, Rivière JB, Dobyns WB. Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 163: 122-130. PMID 23592320 DOI: 10.1002/ajmg.c.31361  0.64
2013 Mirzaa GM, Paciorkowski AR, Marsh ED, Berry-Kravis EM, Medne L, Alkhateeb A, Grix A, Wirrell EC, Powell BR, Nickels KC, Burton B, Paras A, Kim K, Chung W, Dobyns WB, et al. CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatric Neurology. 48: 367-77. PMID 23583054 DOI: 10.1016/j.pediatrneurol.2012.12.030  0.64
2013 McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, ... ... Dobyns WB, et al. Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nature Genetics. 45: 556-62. PMID 23542699 DOI: 10.1038/ng.2602  0.64
2013 Radmanesh F, Caglayan AO, Silhavy JL, Yilmaz C, Cantagrel V, Omar T, Rosti B, Kaymakcalan H, Gabriel S, Li M, Sestan N, Bilguvar K, Dobyns WB, Zaki MS, Gunel M, et al. Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. American Journal of Human Genetics. 92: 468-74. PMID 23472759 DOI: 10.1016/j.ajhg.2013.02.005  0.64
2013 Stevens E, Carss KJ, Cirak S, Foley AR, Torelli S, Willer T, Tambunan DE, Yau S, Brodd L, Sewry CA, Feng L, Haliloglu G, Orhan D, Dobyns WB, Enns GM, et al. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. American Journal of Human Genetics. 92: 354-65. PMID 23453667 DOI: 10.1016/j.ajhg.2013.01.016  0.64
2013 Paciorkowski AR, Traylor RN, Rosenfeld JA, Hoover JM, Harris CJ, Winter S, Lacassie Y, Bialer M, Lamb AN, Schultz RA, Berry-Kravis E, Porter BE, Falk M, Venkat A, Vanzo RJ, ... ... Dobyns WB, et al. MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics. 14: 99-111. PMID 23389741 DOI: 10.1007/s10048-013-0356-y  0.64
2013 Cushion TD, Dobyns WB, Mullins JGL, Stoodley N, Chung SK, Fry AE, Hehr U, Gunny R, Aylsworth AS, Prabhakar P, Uyanik G, Rankin J, Rees MI, Pilz DT. Overlapping cortical malformations and mutations in TUBB2B and TUBA1A Brain. 136: 536-548. PMID 23361065 DOI: 10.1093/brain/aws338  0.64
2013 Rush ET, Adam MP, Clark RD, Curry C, Hartmann JE, Dobyns WB, Olney AH. Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria. American Journal of Medical Genetics. Part A. 161: 320-6. PMID 23292994 DOI: 10.1002/ajmg.a.35817  0.64
2013 Aldinger KA, Kogan J, Kimonis V, Fernandez B, Horn D, Klopocki E, Chung B, Toutain A, Weksberg R, Millen KJ, Barkovich AJ, Dobyns WB. Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion. American Journal of Medical Genetics. Part A. 161: 131-6. PMID 23225497 DOI: 10.1002/ajmg.a.35700  0.64
2013 Siegel DH, Shieh JT, Kwon EK, Baselga E, Blei F, Cordisco M, Dobyns WB, Duffy KJ, Garzon MC, Gibbs DL, Grimmer JF, Hayflick SJ, Krol AL, Kwok PY, Lorier R, et al. Copy number variation analysis in 98 individuals with PHACE syndrome. The Journal of Investigative Dermatology. 133: 677-84. PMID 23096700 DOI: 10.1038/jid.2012.367  0.64
2013 Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Rieß A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, ... ... Dobyns WB, et al. Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. Human Mutation. 34: 237-47. PMID 23033313 DOI: 10.1002/humu.22224  0.64
2013 Sullivan CT, Christian SL, Shieh JTC, Metry D, Blei F, Krol A, Drolet BA, Frieden IJ, Dobyns WB, Siegel DH. X chromosome-inactivation patterns in 31 individuals with PHACE syndrome Molecular Syndromology. 4: 114-118. DOI: 10.1159/000343489  0.64
2012 Traylor RN, Dobyns WB, Rosenfeld JA, Wheeler P, Spence JE, Bandholz AM, Bawle EV, Carmany EP, Powell CM, Hudson B, Schultz RA, Shaffer LG, Ballif BC. Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions. Molecular Syndromology. 3: 102-112. PMID 23112752 DOI: 10.1159/000342008  0.64
2012 Mochida GH, Ganesh VS, de Michelena MI, Dias H, Atabay KD, Kathrein KL, Huang HT, Hill RS, Felie JM, Rakiec D, Gleason D, Hill AD, Malik AN, Barry BJ, Partlow JN, ... ... Dobyns WB, et al. CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. Nature Genetics. 44: 1260-4. PMID 23023333 DOI: 10.1038/ng.2425  0.64
2012 Tully HM, Dempsey JC, Ishak GE, Adam MP, Curry CJ, Sanchez-Lara P, Hunter A, Gripp KW, Allanson J, Cunniff C, Glass I, Millen KJ, Doherty D, Dobyns WB. Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. American Journal of Medical Genetics. Part A. 158: 2393-406. PMID 22965664 DOI: 10.1002/ajmg.a.35561  0.64
2012 Kheradmand Kia S, Verbeek E, Engelen E, Schot R, Poot RA, de Coo IF, Lequin MH, Poulton CJ, Pourfarzad F, Grosveld FG, Brehm A, de Wit MC, Oegema R, Dobyns WB, Verheijen FW, et al. RTTN mutations link primary cilia function to organization of the human cerebral cortex. American Journal of Human Genetics. 91: 533-40. PMID 22939636 DOI: 10.1016/j.ajhg.2012.07.008  0.64
2012 Pisano T, Barkovich AJ, Leventer RJ, Squier W, Scheffer IE, Parrini E, Blaser S, Marini C, Robertson S, Tortorella G, Rosenow F, Thomas P, McGillivray G, Andermann E, Andermann F, ... ... Dobyns WB, et al. Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. Neurology. 79: 1244-51. PMID 22914838 DOI: 10.1212/WNL.0b013e31826aac88  0.64
2012 Zaki MS, Saleem SN, Dobyns WB, Barkovich AJ, Bartsch H, Dale AM, Ashtari M, Akizu N, Gleeson JG, Grijalvo-Perez AM. Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation. Brain : a Journal of Neurology. 135: 2416-27. PMID 22822038 DOI: 10.1093/brain/aws162  0.64
2012 Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, ... ... Dobyns WB, et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nature Genetics. 44: 934-40. PMID 22729224 DOI: 10.1038/ng.2331  0.64
2012 Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, et al. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nature Genetics. 44: 575-80. PMID 22522420 DOI: 10.1038/ng.2252  0.64
2012 Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass I, Rue TC, Millen KJ, Dobyns WB, Doherty D. Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. Brain : a Journal of Neurology. 135: 1370-86. PMID 22451504 DOI: 10.1093/brain/aws065  0.64
2012 Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB. A developmental and genetic classification for malformations of cortical development: Update 2012 Brain. 135: 1348-1369. PMID 22427329 DOI: 10.1093/brain/aws019  0.64
2012 Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, ... ... Dobyns WB, et al. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nature Genetics. 44: 440-4, S1-2. PMID 22366783 DOI: 10.1038/ng.1091  0.64
2012 Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, deVries LS, Lev D, Kramer N, Hopkins E, Graham JM, Dobyns WB. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis American Journal of Medical Genetics, Part A. 158: 269-291. PMID 22228622 DOI: 10.1002/ajmg.a.34402  0.64
2011 Paciorkowski AR, Thio LL, Dobyns WB. Genetic and biologic classification of infantile spasms Pediatric Neurology. 45: 355-367. PMID 22114996 DOI: 10.1016/j.pediatrneurol.2011.08.010  0.64
2011 Zaki MS, Salam GM, Saleem SN, Dobyns WB, Issa MY, Sattar S, Gleeson JG. New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect. American Journal of Medical Genetics. Part A. 155: 3035-41. PMID 22002884 DOI: 10.1002/ajmg.a.34078  0.64
2011 Moog U, Kutsche K, Kortüm F, Chilian B, Bierhals T, Apeshiotis N, Balg S, Chassaing N, Coubes C, Das S, Engels H, Van Esch H, Grasshoff U, Heise M, Isidor B, ... ... Dobyns WB, et al. Phenotypic spectrum associated with CASK loss-of-function mutations. Journal of Medical Genetics. 48: 741-51. PMID 21954287 DOI: 10.1136/jmedgenet-2011-100218  0.64
2011 Gripp KW, Hopkins E, Johnston JJ, Krause C, Dobyns WB, Biesecker LG. Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene American Journal of Medical Genetics, Part A. 155: 2516-2520. PMID 21910224 DOI: 10.1002/ajmg.a.34190  0.64
2011 Mirzaa GM, Paciorkowski AR, Smyser CD, Willing MC, Lind AC, Dobyns WB. The microcephaly-capillary malformation syndrome American Journal of Medical Genetics, Part A. 155: 2080-2087. PMID 21815250 DOI: 10.1002/ajmg.a.34118  0.64
2011 Osbun N, Li J, O'Driscoll MC, Strominger Z, Wakahiro M, Rider E, Bukshpun P, Boland E, Spurrell CH, Schackwitz W, Pennacchio LA, Dobyns WB, Black GC, Sherr EH. Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene. American Journal of Medical Genetics. Part A. 155: 1865-76. PMID 21739582 DOI: 10.1002/ajmg.a.34081  0.64
2011 Paciorkowski AR, Thio LL, Rosenfeld JA, Gajecka M, Gurnett CA, Kulkarni S, Chung WK, Marsh ED, Gentile M, Reggin JD, Wheless JW, Balasubramanian S, Kumar R, Christian SL, Marini C, ... ... Dobyns WB, et al. Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function. European Journal of Human Genetics : Ejhg. 19: 1238-45. PMID 21694734 DOI: 10.1038/ejhg.2011.121  0.64
2011 Labelle-Dumais C, Dilworth DJ, Harrington EP, de Leau M, Lyons D, Kabaeva Z, Manzini MC, Dobyns WB, Walsh CA, Michele DE, Gould DB. COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. Plos Genetics. 7: e1002062. PMID 21625620 DOI: 10.1371/journal.pgen.1002062  0.64
2011 Judkins AR, Martinez D, Ferreira P, Dobyns WB, Golden JA. Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization. Journal of Neuropathology and Experimental Neurology. 70: 438-43. PMID 21572338 DOI: 10.1097/NEN.0b013e31821ccf1c  0.64
2011 Barga R, Howe B, Beck D, Bowers S, Dobyns W, Haynes W, Higdon R, Howard C, Roth C, Stewart E, Welch D, Kolker E. Bioinformatics and data-intensive scientific discovery in the beginning of the 21st century. Omics : a Journal of Integrative Biology. 15: 199-201. PMID 21476840 DOI: 10.1089/omi.2011.0024  0.64
2011 Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Bond FF, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA, Cullinane AR, McNeill A, Pasha SS, Kirby GA, ... ... Dobyns WB, et al. Loss-of-function mutations in RAB18 cause Warburg micro syndrome. American Journal of Human Genetics. 88: 499-507. PMID 21473985 DOI: 10.1016/j.ajhg.2011.03.012  0.64
2011 Kortüm F, Das S, Flindt M, Morris-Rosendahl DJ, Stefanova I, Goldstein A, Horn D, Klopocki E, Kluger G, Martin P, Rauch A, Roumer A, Saitta S, Walsh LE, Wieczorek D, ... ... Dobyns WB, et al. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. Journal of Medical Genetics. 48: 396-406. PMID 21441262 DOI: 10.1136/jmg.2010.087528  0.64
2011 Gripp KW, Hopkins E, Sol-Church K, Stabley DL, Axelrad ME, Doyle D, Dobyns WB, Hudson C, Johnson J, Tenconi R, Graham GE, Sousa AB, Heller R, Piccione M, Corsello G, et al. Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C American Journal of Medical Genetics, Part A. 155: 706-716. PMID 21438134 DOI: 10.1002/ajmg.a.33884  0.64
2011 Conti V, Marini C, Gana S, Sudi J, Dobyns WB, Guerrini R. Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX American Journal of Medical Genetics, Part A. 155: 892-897. PMID 21416597 DOI: 10.1002/ajmg.a.33923  0.64
2011 Hanna RM, Marsh SE, Swistun D, Al-Gazali L, Zaki MS, Abdel-Salam GM, Al-Tawari A, Bastaki L, Kayserili H, Rajab A, Boglárka B, Dietrich RB, Dobyns WB, Truwit CL, Sattar S, et al. Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families. Neurology. 76: 373-82. PMID 21263138 DOI: 10.1212/WNL.0b013e318208f492  0.64
2011 Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, ... ... Dobyns WB, et al. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain : a Journal of Neurology. 134: 143-56. PMID 20952379 DOI: 10.1093/brain/awq287  0.64
2010 Basel-Vanagaite L, Raas-Rotchild A, Kornreich L, Har-Zahav A, Yeshaya J, Latarowski V, Lerer I, Dobyns WB, Shohat M. Familial hydrocephalus with normal cognition and distinctive radiological features American Journal of Medical Genetics, Part A. 152: 2743-2748. PMID 20979187 DOI: 10.1002/ajmg.a.33688  0.64
2010 Kaufmann R, Straussberg R, Mandel H, Fattal-Valevski A, Ben-Zeev B, Naamati A, Shaag A, Zenvirt S, Konen O, Mimouni-Bloch A, Dobyns WB, Edvardson S, Pines O, Elpeleg O. Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex American Journal of Human Genetics. 87: 667-670. PMID 20950787 DOI: 10.1016/j.ajhg.2010.09.016  0.64
2010 Reese J, Aldinger KA, Dobyns WB, Gripp KW. X-linked hereditary hemihypotrophy hemiparesis hemiathetosis. American Journal of Medical Genetics. Part A. 152: 2727-30. PMID 20949603 DOI: 10.1002/ajmg.a.33545  0.64
2010 Nicholas AK, Khurshid M, Désir J, Carvalho OP, Cox JJ, Thornton G, Kausar R, Ansar M, Ahmad W, Verloes A, Passemard S, Misson JP, Lindsay S, Gergely F, Dobyns WB, et al. WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nature Genetics. 42: 1010-4. PMID 20890279 DOI: 10.1038/ng.682  0.64
2010 Yu TW, Mochida GH, Tischfield DJ, Sgaier SK, Flores-Sarnat L, Sergi CM, Topçu M, McDonald MT, Barry BJ, Felie JM, Sunu C, Dobyns WB, Folkerth RD, Barkovich AJ, Walsh CA. Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nature Genetics. 42: 1015-20. PMID 20890278 DOI: 10.1038/ng.683  0.64
2010 Graham JM, Spencer AH, Grinberg I, Niesen CE, Platt LD, Maya M, Namavar Y, Baas F, Dobyns WB. Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible? American Journal of Medical Genetics. Part A. 152: 2268-76. PMID 20803644 DOI: 10.1002/ajmg.a.33579  0.64
2010 O'Driscoll MC, Daly SB, Urquhart JE, Black GC, Pilz DT, Brockmann K, McEntagart M, Abdel-Salam G, Zaki M, Wolf NI, Ladda RL, Sell S, D'Arrigo S, Squier W, Dobyns WB, et al. Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. American Journal of Human Genetics. 87: 354-64. PMID 20727516 DOI: 10.1016/j.ajhg.2010.07.012  0.64
2010 O'Driscoll MC, Black GC, Clayton-Smith J, Sherr EH, Dobyns WB. Identification of genomic loci contributing to agenesis of the corpus callosum. American Journal of Medical Genetics. Part A. 152: 2145-59. PMID 20683985 DOI: 10.1002/ajmg.a.33558  0.64
2010 Basel-Vanagaite L, Dobyns WB. Clinical and Brain Imaging Heterogeneity of Severe Microcephaly Pediatric Neurology. 43: 7-16. PMID 20682196 DOI: 10.1016/j.pediatrneurol.2010.02.015  0.64
2010 Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blümel P, Sykut-Cegielska J, Houliston S, Swistun D, ... ... Dobyns WB, et al. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell. 142: 203-17. PMID 20637498 DOI: 10.1016/j.cell.2010.06.001  0.64
2010 Rankin J, Brown R, Dobyns WB, Harington J, Patel J, Quinn M, Brown G. Pontocerebellar hypoplasia type 6: A British case with PEHO-like features American Journal of Medical Genetics, Part A. 152: 2079-2084. PMID 20635367 DOI: 10.1002/ajmg.a.33531  0.64
2010 O'Driscoll MC, Jenny K, Saitta S, Dobyns WB, Gripp KW. Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome? American Journal of Medical Genetics, Part A. 152: 1621-1626. PMID 20583147 DOI: 10.1002/ajmg.a.33200  0.64
2010 Carr CW, Moreno-De-Luca D, Parker C, Zimmerman HH, Ledbetter N, Martin CL, Dobyns WB, Abdul-Rahman OA. Chiari i malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency European Journal of Human Genetics. 18: 1216-1220. PMID 20571508 DOI: 10.1038/ejhg.2010.96  0.64
2010 Verkerk AJMH, Schot R, Van Waterschoot L, Douben H, Poddighe PJ, Lequin MH, De Vries LS, Terhal P, Hahnemann JMD, De Coo IFM, De Wit MCY, Wafelman LS, Garavelli L, Dobyns WB, Van Der Spek PJ, et al. Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus American Journal of Medical Genetics, Part A. 152: 1488-1497. PMID 20503325 DOI: 10.1002/ajmg.a.33408  0.64
2010 Kumar RA, Pilz DT, Babatz TD, Cushion TD, Harvey K, Topf M, Yates L, Robb S, Uyanik G, Mancini GM, Rees MI, Harvey RJ, Dobyns WB. TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Human Molecular Genetics. 19: 2817-27. PMID 20466733 DOI: 10.1093/hmg/ddq182  0.64
2010 Gripp KW, Hopkins E, Doyle D, Dobyns WB. High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: Brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities American Journal of Medical Genetics, Part A. 152: 1161-1168. PMID 20425820 DOI: 10.1002/ajmg.a.33391  0.64
2010 Leventer RJ, Jansen A, Pilz DT, Stoodley N, Marini C, Dubeau F, Malone J, Mitchell LA, Mandelstam S, Scheffer IE, Berkovic SF, Andermann F, Andermann E, Guerrini R, Dobyns WB. Clinical and imaging heterogeneity of polymicrogyria: A study of 328 patients Brain. 133: 1415-1427. PMID 20403963 DOI: 10.1093/brain/awq078  0.64
2010 Dobyns WB. The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia: Malformations of cortical development - Genetics Epilepsia. 51: 5-9. PMID 20331703 DOI: 10.1111/j.1528-1167.2009.02433.x  0.64
2010 Pavone P, Ruggieri M, Lombardo I, Sudi J, Biancheri R, Castellano-Chiodo D, Rossi A, Incorpora G, Nowak NJ, Christian SL, Pavone L, Dobyns WB. Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q. European Journal of Pediatrics. 169: 475-481. PMID 19838731 DOI: 10.1007/s00431-009-1061-6  0.64
2010 Mineyko A, Doja A, Hurteau J, Dobyns WB, Das S, Boycott KM. A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism Journal of Child Neurology. 25: 738-741. PMID 19808989 DOI: 10.1177/0883073809343312  0.64
2010 Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, ... ... Dobyns WB, et al. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). Journal of Medical Genetics. 47: 8-21. PMID 19574260 DOI: 10.1136/jmg.2009.067249  0.64
2010 Kumar RA, Sudi J, Babatz TD, Brune CW, Oswald D, Yen M, Nowak NJ, Cook EH, Christian SL, Dobyns WB. A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism. Journal of Medical Genetics. 47: 81-90. PMID 19546099 DOI: 10.1136/jmg.2008.065821  0.64
2010 Oegema R, De Klein A, Verkerk AJ, Schot R, Dumee B, Douben H, Eussen B, Dubbel L, Poddighe PJ, Van Der Laar I, Dobyns WB, Van Der Spek PJ, Lequin MH, De Coo IFM, De Wit MCY, et al. Distinctive phenotypic abnormalities associated with submicroscopic 21q22 deletion including DYRK1A Molecular Syndromology. 1: 113-120. DOI: 10.1159/000320113  0.64
2010 Barkovich AJ, Dobyns WB, Millen KJ. Letter to the editor: Reply: Sagging and swelling of the midbrain suggest spontaneous intracranial hypotension rather than a malformation Brain. 133: e149. DOI: 10.1093/brain/awq031  0.64
2009 Babatz TD, Kumar RA, Sudi J, Dobyns WB, Christian SL. Copy number and sequence variants implicate APBA2 as an autism candidate gene Autism Research. 2: 359-364. PMID 20029827 DOI: 10.1002/aur.107  0.64
2009 Barkovich AJ, Millen KJ, Dobyns WB. A developmental and genetic classification for midbrain-hindbrain malformations. Brain : a Journal of Neurology. 132: 3199-230. PMID 19933510 DOI: 10.1093/brain/awp247  0.64
2009 Morava E, Wevers RA, Willemsen MA, Lefeber D. Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré type. Neurology. 73: 1164; author reply 1. PMID 19805737 DOI: 10.1212/WNL.0b013e3181b26daf  0.64
2009 Ashwal S, Michelson D, Plawner L, Dobyns WB. Practice parameter: Evaluation of the child with microcephaly (an evidence-based review): Report of the quality standards subcommittee of the American academy of neurology and the practice committee of the child neurology society Neurology. 73: 887-897. PMID 19752457 DOI: 10.1212/WNL.0b013e3181b783f7  0.64
2009 Aldinger KA, Lehmann OJ, Hudgins L, Chizhikov VV, Bassuk AG, Ades LC, Krantz ID, Dobyns WB, Millen KJ. FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nature Genetics. 41: 1037-42. PMID 19668217 DOI: 10.1038/ng.422  0.64
2009 Solomon BD, Lacbawan F, Jain M, Domene S, Roessler E, Moore C, Dobyns WB, Muenke M. A novel six3 mutation segregates with holoprosencephaly in a large family American Journal of Medical Genetics, Part A. 149: 919-925. PMID 19353631 DOI: 10.1002/ajmg.a.32813  0.64
2009 Gripp KW, Hopkins E, Vinkler C, Lev D, Malinger G, Lerman-Sagie T, Dobyns WB. Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes American Journal of Medical Genetics, Part A. 149: 868-876. PMID 19353582 DOI: 10.1002/ajmg.a.32732  0.64
2009 Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domené S, Vélez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, ... ... Dobyns WB, et al. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. Journal of Medical Genetics. 46: 389-98. PMID 19346217 DOI: 10.1136/jmg.2008.063818  0.64
2009 Rajab A, Aldinger KA, El-Shirbini HA, Dobyns WB, Ross ME. Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2. American Journal of Medical Genetics. Part A. 149: 129-37. PMID 19161147 DOI: 10.1002/ajmg.a.32630  0.64
2009 Haverfield EV, Whited AJ, Petras KS, Dobyns WB, Das S. Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. European Journal of Human Genetics : Ejhg. 17: 911-8. PMID 19050731 DOI: 10.1038/ejhg.2008.213  0.64
2009 Nicholas AK, Swanson EA, Cox JJ, Karbani G, Malik S, Springell K, Hampshire D, Ahmed M, Bond J, Di Benedetto D, Fichera M, Romano C, Dobyns WB, Woods CG. The molecular landscape of ASPM mutations in primary microcephaly. Journal of Medical Genetics. 46: 249-53. PMID 19028728 DOI: 10.1136/jmg.2008.062380  0.64
2009 Shrimpton AE, Kessler JA, Shaffer LG, Stack C, Jalali A, Little R, Goldstein J, Angle B, Chary A, Coppinger J, Mathison DJ, Khan S, Poznanski AK, Dobyns WB, Craig DW, et al. Variability of epilepsy, autism, brachydactyly, and other clinical features in familial and sporadic 2q37.3 deletion Journal of Pediatric Neurology. 7: 279-283. DOI: 10.3233/JPN-2009-0312  0.64
2008 Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL, Ullmann R, Kuechler A, Haas CA, Flubacher A, Charnas LR, Uyanik G, Frank U, Klopocki E, ... Dobyns WB, et al. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nature Genetics. 40: 1065-7. PMID 19165920 DOI: 10.1038/ng.194  0.64
2008 Briggs TA, Wolf NI, D'Arrigo S, Ebinger F, Harting I, Dobyns WB, Livingston JH, Rice GI, Crooks D, Rowland-Hill CA, Squier W, Stoodley N, Pilz DT, Crow YJ. Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct "pseudo-TORCH" phenotype American Journal of Medical Genetics, Part A. 146: 3173-3180. PMID 19012351 DOI: 10.1002/ajmg.a.32614  0.64
2008 Manzini MC, Gleason D, Chang BS, Hill RS, Barry BJ, Partlow JN, Poduri A, Currier S, Galvin-Parton P, Shapiro LR, Schmidt K, Davis JG, Basel-Vanagaite L, Seidahmed MZ, Salih MA, ... Dobyns WB, et al. Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. Human Mutation. 29: E231-41. PMID 18752264 DOI: 10.1002/humu.20844  0.64
2008 Van Maldergem L, Yuksel-Apak M, Kayserili H, Seemanova E, Giurgea S, Basel-Vanagaite L, Leao-Teles E, Vigneron J, Foulon M, Greally M, Jaeken J, Mundlos S, Dobyns WB. Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. Neurology. 71: 1602-8. PMID 18716235 DOI: 10.1212/01.wnl.0000327822.52212.c7  0.64
2008 Chanda B, Asai-Coakwell M, Ye M, Mungall AJ, Barrow M, Dobyns WB, Behesti H, Sowden JC, Carter NP, Walter MA, Lehmann OJ. A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation. Human Molecular Genetics. 17: 3446-58. PMID 18694899 DOI: 10.1093/hmg/ddn238  0.64
2008 Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, et al. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. American Journal of Human Genetics. 83: 170-9. PMID 18674751 DOI: 10.1016/j.ajhg.2008.06.023  0.64
2008 Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, et al. Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. American Journal of Medical Genetics. Part A. 146: 1637-54. PMID 18536050 DOI: 10.1002/ajmg.a.32293  0.64
2008 Merello E, Swanson E, De Marco P, Akhter M, Striano P, Rossi A, Cama A, Leventer RJ, Guerrini R, Capra V, Dobyns WB. No major role for the EMX2 gene in schizencephaly. American Journal of Medical Genetics. Part A. 146: 1142-50. PMID 18409201 DOI: 10.1002/ajmg.a.32264  0.64
2008 Christian SL, Brune CW, Sudi J, Kumar RA, Liu S, Karamohamed S, Badner JA, Matsui S, Conroy J, McQuaid D, Gergel J, Hatchwell E, Gilliam TC, Gershon ES, Nowak NJ, ... Dobyns WB, et al. Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biological Psychiatry. 63: 1111-7. PMID 18374305 DOI: 10.1016/j.biopsych.2008.01.009  0.64
2008 Zaki MS, Abdel-Aleem A, Abdel-Salam G, Marsh SE, Silhavy JL, Barkovich AJ, Ross ME, Saleem SN, Dobyns WB, Gleeson JG. The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. Neurology. 70: 556-65. PMID 18268248 DOI: 10.1212/01.wnl.0000277644.12087.fd  0.64
2008 Guerrini R, Dobyns WB, Barkovich AJ. Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options Trends in Neurosciences. 31: 154-162. PMID 18262290 DOI: 10.1016/j.tins.2007.12.004  0.64
2008 Jalali A, Aldinger KA, Chary A, McLone DG, Bowman RM, Le LC, Jardine P, Newbury-Ecob R, Mallick A, Jafari N, Russell EJ, Curran J, Nguyen P, Ouahchi K, Lee C, ... Dobyns WB, et al. Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity. Human Genetics. 123: 237-45. PMID 18204864 DOI: 10.1007/s00439-008-0467-y  0.64
2008 Kornak U, Reynders E, Dimopoulou A, Van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F, Dobyns WB, Quelhas D, Vilarinho L, Leao-Teles E, Greally M, Seemanova E, et al. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 Nature Genetics. 40: 32-34. PMID 18157129 DOI: 10.1038/ng.2007.45  0.64
2008 Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA, Gilliam TC, Nowak NJ, Cook EH, Dobyns WB, Christian SL. Recurrent 16p11.2 microdeletions in autism. Human Molecular Genetics. 17: 628-38. PMID 18156158 DOI: 10.1093/hmg/ddm376  0.64
2008 Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL, Ullmann R, Kuechler A, Haas CA, Flubacher A, Charnas LR, Uyanik G, Frank U, Klopocki E, ... Dobyns WB, et al. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum (Nature Genetics (2008) 40, (1065-1067)) Nature Genetics. 40: 1384. DOI: 10.1038/ng1108-1384b  0.64
2007 Garavelli L, Guareschi E, Errico S, Simoni A, Bergonzini P, Zollino M, Gurrieri F, Mancini GM, Schot R, Van Der Spek PJ, Frigieri G, Zonari P, Albertini E, Della Giustina E, Amarri S, ... ... Dobyns WB, et al. Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): Report of a new case Neuropediatrics. 38: 200-203. PMID 18058629 DOI: 10.1055/s-2007-985908  0.64
2007 Moog U, Jones MC, Viskochil DH, Verloes A, Van Allen MI, Dobyns WB. Brain anomalies in encephalocraniocutaneous lipomatosis American Journal of Medical Genetics, Part A. 143: 2963-2972. PMID 18000987 DOI: 10.1002/ajmg.a.32074  0.64
2007 Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, Butler MG, Zackai E, Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, et al. Neuroimaging findings in Macrocephaly-Capillary Malformation: A longitudinal study of 17 patients American Journal of Medical Genetics, Part A. 143: 2981-3008. PMID 18000912 DOI: 10.1002/ajmg.a.32040  0.64
2007 Barkovich AJ, Millen KJ, Dobyns WB. A developmental classification of malformations of the brainstem. Annals of Neurology. 62: 625-39. PMID 17924529 DOI: 10.1002/ana.21239  0.64
2007 Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, Zackai E, Swanson EA, Fitzpatrick D, Millen KJ, Sherr EH, Dobyns WB, Black GC. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. American Journal of Human Genetics. 81: 292-303. PMID 17668379 DOI: 10.1086/519999  0.64
2007 Guerrini R, Moro F, Kato M, Barkovich AJ, Shiihara T, McShane MA, Hurst J, Loi M, Tohyama J, Norci V, Hayasaka K, Kang UJ, Das S, Dobyns WB. Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Neurology. 69: 427-33. PMID 17664401 DOI: 10.1212/01.wnl.0000266594.16202.c1  0.64
2007 O'Driscoll M, Dobyns WB, van Hagen JM, Jeggo PA. Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling. American Journal of Human Genetics. 81: 77-86. PMID 17564965 DOI: 10.1086/518696  0.64
2007 Zaki M, Shehab M, El-Aleem AA, Abdel-Salam G, Koeller HB, Ilkin Y, Ross ME, Dobyns WB, Gleeson JG. Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. American Journal of Medical Genetics. Part A. 143: 939-44. PMID 17431900 DOI: 10.1002/ajmg.a.31667  0.64
2007 Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S, Green A, Guimaraes J, Haake BC, Klein C, Linazasoro G, Münchau A, Raymond D, Riley D, Saunders-Pullman R, et al. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain : a Journal of Neurology. 130: 828-35. PMID 17282997 DOI: 10.1093/brain/awl340  0.64
2007 Cantagrel V, Lossi AM, Lisgo S, Missirian C, Borges A, Philip N, Fernandez C, Cardoso C, Figarella-Branger D, Moncla A, Lindsay S, Dobyns WB, Villard L. Truncation of NHEJ1 in a patient with polymicrogyria. Human Mutation. 28: 356-64. PMID 17191205 DOI: 10.1002/humu.20450  0.64
2006 Robin NH, Taylor CJ, McDonald-McGinn DM, Zackai EH, Bingham P, Collins KJ, Earl D, Gill D, Granata T, Guerrini R, Katz N, Kimonis V, Lin JP, Lynch DR, Mohammed SN, ... ... Dobyns WB, et al. Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. American Journal of Medical Genetics. Part A. 140: 2416-25. PMID 17036343 DOI: 10.1002/ajmg.a.31443  0.64
2006 Martin RD, Maclarnon AM, Phillips JL, Dobyns WB. Flores hominid: new species or microcephalic dwarf? The Anatomical Record. Part a, Discoveries in Molecular, Cellular, and Evolutionary Biology. 288: 1123-45. PMID 17031806 DOI: 10.1002/ar.a.20389  0.64
2006 Dobyns WB. The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked Acta Paediatrica, International Journal of Paediatrics. 95: 11-15. PMID 16720459 DOI: 10.1080/08035320600618759  0.64
2006 Martin RD, Maclarnon AM, Phillips JL, Dussubieux L, Williams PR, Dobyns WB. Comment on "The Brain of LB1, Homo floresiensis". Science (New York, N.Y.). 312: 999; author reply 99. PMID 16709768 DOI: 10.1126/science.1121144  0.64
2006 Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, et al. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. Brain : a Journal of Neurology. 129: 1892-906. PMID 16684786 DOI: 10.1093/brain/awl125  0.64
2006 Tsao JW, Neal J, Apse K, Stephan MJ, Dobyns WB, Hill RS, Walsh CA, Sheen VL. Cerebellar ataxia with progressive improvement. Archives of Neurology. 63: 594-7. PMID 16606775 DOI: 10.1001/archneur.63.4.594  0.64
2006 Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, et al. AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Annals of Neurology. 59: 527-34. PMID 16453322 DOI: 10.1002/ana.20749  0.64
2006 Vajsar J, Zhang W, Dobyns WB, Biggar D, Holden KR, Hawkins C, Ray P, Olney AH, Burson CM, Srivastava AK, Schachter H. Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts. Neuromuscular Disorders : Nmd. 16: 132-6. PMID 16427280 DOI: 10.1016/j.nmd.2005.11.012  0.64
2006 Parisi MA, Doherty D, Eckert ML, Shaw DW, Ozyurek H, Aysun S, Giray O, Al Swaid A, Al Shahwan S, Dohayan N, Bakhsh E, Indridason OS, Dobyns WB, Bennett CL, Chance PF, et al. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. Journal of Medical Genetics. 43: 334-9. PMID 16155189 DOI: 10.1136/jmg.2005.036608  0.64
2005 Wieck G, Leventer RJ, Squier WM, Jansen A, Andermann E, Dubeau F, Ramazzotti A, Guerrini R, Dobyns WB. Periventricular nodular heterotopia with overlying polymicrogyria Brain. 128: 2811-2821. PMID 16311271 DOI: 10.1093/brain/awh658  0.64
2005 Piao X, Chang BS, Bodell A, Woods K, Benzeev B, Topcu M, Guerrini R, Goldberg-Stern H, Sztriha L, Dobyns WB, Barkovich AJ, Walsh CA. Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. Annals of Neurology. 58: 680-7. PMID 16240336 DOI: 10.1002/ana.20616  0.64
2005 Forman MS, Squier W, Dobyns WB, Golden JA. Genotypically defined lissencephalies show distinct pathologies. Journal of Neuropathology and Experimental Neurology. 64: 847-57. PMID 16215456  0.64
2005 Gilbert SL, Dobyns WB, Lahn BT. Genetic links between brain development and brain evolution. Nature Reviews. Genetics. 6: 581-90. PMID 15951746 DOI: 10.1038/nrg1634  0.64
2005 Kato M, Dobyns WB. X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: Proposal for a new term, "interneuronopathy" Journal of Child Neurology. 20: 392-397. PMID 15921244  0.64
2005 Moog U, Jones MC, Bird LM, Dobyns WB. Oculocerebrocutaneous syndrome: The brain malformation defines a core phenotype Journal of Medical Genetics. 42: 913-921. PMID 15879499 DOI: 10.1136/jmg.2005.031369  0.64
2005 Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, ... ... Dobyns WB, et al. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nature Genetics. 37: 221-3. PMID 15696165 DOI: 10.1038/ng1517  0.64
2005 Currier SC, Lee CK, Chang BS, Bodell AL, Pai GS, Job L, Lagae LG, Al-Gazali LI, Eyaid WM, Enns G, Dobyns WB, Walsh CA. Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. American Journal of Medical Genetics. Part A. 133: 53-7. PMID 15637732 DOI: 10.1002/ajmg.a.30487  0.64
2004 Gilbert SL, Ozdag F, Ulas UH, Dobyns WB, Lahn BT. Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families. Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology. 8: 151-5. PMID 15771552 DOI: 10.2165/00066982-200408030-00002  0.64
2004 Mirzaa G, Dodge NN, Glass I, Day C, Gripp K, Nicholson L, Straub V, Voit T, Dobyns WB. Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. Neuropediatrics. 35: 353-9. PMID 15627943 DOI: 10.1055/s-2004-830497  0.64
2004 Diesen C, Saarinen A, Pihko H, Rosenlew C, Cormand B, Dobyns WB, Dieguez J, Valanne L, Joensuu T, Lehesjoki AE. POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. Journal of Medical Genetics. 41: e115. PMID 15466003 DOI: 10.1136/jmg.2004.020701  0.64
2004 Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ. Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. Nature Genetics. 36: 1053-5. PMID 15338008 DOI: 10.1038/ng1420  0.64
2004 Dobyns WB, Filauro A, Tomson BN, Chan AS, Ho AW, Ting NT, Oosterwijk JC, Ober C. Inheritance of most X-linked traits is not dominant or recessive, just X-linked. American Journal of Medical Genetics. Part A. 129: 136-43. PMID 15316978 DOI: 10.1002/ajmg.a.30123  0.64
2004 de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, Linazasoro G, Borg M, Tijssen MA, Bressman SB, Dobyns WB, Brashear A, Ozelius LJ. Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron. 43: 169-75. PMID 15260953 DOI: 10.1016/j.neuron.2004.06.028  0.64
2004 Kamm C, Leung J, Joseph S, Dobyns WB, Brashear A, Breakefield XO, Ozelius LJ. Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene. Movement Disorders : Official Journal of the Movement Disorder Society. 19: 845-7. PMID 15254951 DOI: 10.1002/mds.20095  0.64
2004 Guerrini R, Mei D, Sisodiya S, Sicca F, Harding B, Takahashi Y, Dorn T, Yoshida A, Campistol J, Krämer G, Moro F, Dobyns WB, Parrini E. Germline and mosaic mutations of FLN1 in men with periventricular heterotopia Neurology. 63: 51-56. PMID 15249610  0.64
2004 Graham JM, Hennekam R, Dobyns WB, Roeder E, Busch D. MICRO syndrome: An entity distinct from COFS syndrome American Journal of Medical Genetics. 128: 235-245. PMID 15216543  0.64
2004 Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. American Journal of Human Genetics. 75: 82-91. PMID 15138899 DOI: 10.1086/421846  0.64
2004 Beltran-Valero de Bernabé D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. Journal of Medical Genetics. 41: e61. PMID 15121789  0.64
2004 Piao X, Hill RS, Bodell A, Chang BS, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Ross ME, Michaud JL, Déscarie JC, Barkovich AJ, et al. G protein-coupled receptor-dependent development of human frontal cortex. Science (New York, N.Y.). 303: 2033-6. PMID 15044805 DOI: 10.1126/science.1092780  0.64
2004 Keegan CE, Vilain E, Mohammed M, Lehoczky J, Dobyns WB, Archer SM, Innis JW. Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal. American Journal of Medical Genetics. Part A. 125: 293-8. PMID 14994240 DOI: 10.1002/ajmg.a.20455  0.64
2004 Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, Graham Jr JM, Maria BL, Barkovich AJ, Dobyns WB. Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. American Journal of Medical Genetics. Part A. 125: 125-34; discussion 1. PMID 14981712 DOI: 10.1002/ajmg.a.20437  0.64
2004 Stevens CA, Dobyns WB. Septo-Optic Dysplasia and Amniotic Bands: Further Evidence for a Vascular Pathogenesis American Journal of Medical Genetics. 125: 12-16. PMID 14755460  0.64
2004 Kato M, Das S, Petras K, Kitamura K, Morohashi KI, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, ... ... Dobyns WB, et al. Mutations of ARX Are Associated with Striking Pleiotropy and Consistent Genotype-Phenotype Correlation Human Mutation. 23: 147-159. PMID 14722918 DOI: 10.1002/humu.10310  0.64
2004 Giampietro PF, Babu D, Koehn MA, Jacobson DM, Mueller-Schrader KA, Moretti C, Patten SF, Shaffer LG, Gorlin RJ, Dobyns WB. New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria. American Journal of Medical Genetics. Part A. 124: 202-8. PMID 14699622 DOI: 10.1002/ajmg.a.20377  0.64
2003 Leeflang EP, Marsh SE, Parrini E, Moro F, Pilz D, Dobyns WB, Guerrini R, Wheless JW, Gleeson JG. Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes. Journal of Medical Genetics. 40: e128. PMID 14684696  0.64
2003 Rossi M, Guerrini R, Dobyns WB, Andria G, Winter RM. Characterization of Brain Malformations in the Baraitser-Winter Syndrome and Review of the Literature Neuropediatrics. 34: 287-292. PMID 14681753 DOI: 10.1055/s-2003-44666  0.64
2003 de Bernabé DB, van Bokhoven H, van Beusekom E, Van den Akker W, Kant S, Dobyns WB, Cormand B, Currier S, Hamel B, Talim B, Topaloglu H, Brunner HG. A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. Journal of Medical Genetics. 40: 845-8. PMID 14627679  0.64
2003 Sicca F, Kelemen A, Genton P, Das S, Mei D, Moro F, Dobyns WB, Guerrini R. Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. Neurology. 61: 1042-6. PMID 14581661  0.64
2003 Parisi MA, Dobyns WB. Human malformations of the midbrain and hindbrain: review and proposed classification scheme. Molecular Genetics and Metabolism. 80: 36-53. PMID 14567956 DOI: 10.1016/j.ymgme.2003.08.010  0.64
2003 Kato M, Das S, Petras K, Sawaishi Y, Dobyns WB. Polyalanine expansion of ARX associated with cryptogenic West syndrome Neurology. 61: 267-268. PMID 12874418  0.64
2003 Guerrini R, Moro F, Andermann E, Hughes E, D'Agostino D, Carrozzo R, Bernasconi A, Flinter F, Parmeggiani L, Volzone A, Parrini E, Mei D, Jarosz JM, Morris RG, Pratt P, ... ... Dobyns WB, et al. Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations. Annals of Neurology. 54: 30-7. PMID 12838518 DOI: 10.1002/ana.10588  0.64
2003 Ramocki MB, Dowling J, Grinberg I, Kimonis VE, Cardoso C, Gross A, Chung J, Martin CL, Ledbetter DH, Dobyns WB, Millen KJ. Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32. European Journal of Human Genetics : Ejhg. 11: 527-34. PMID 12825074 DOI: 10.1038/sj.ejhg.5200995  0.64
2003 Philip N, Chabrol B, Lossi AM, Cardoso C, Guerrini R, Dobyns WB, Raybaud C, Villard L. Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia. Journal of Medical Genetics. 40: 441-6. PMID 12807966  0.64
2003 Chang BS, Piao X, Bodell A, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Grant PE, Barkovich AJ, Walsh CA. Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. Annals of Neurology. 53: 596-606. PMID 12730993 DOI: 10.1002/ana.10520  0.64
2003 Kato M, Dobyns WB. Lissencephaly and the molecular basis of neuronal migration Human Molecular Genetics. 12: R89-R96. PMID 12668601  0.64
2003 Cardoso C, Leventer RJ, Ward HL, Toyo-oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3 American Journal of Human Genetics. 72: 918-930. PMID 12621583 DOI: 10.1086/374320  0.64
2002 Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka M, Omichi K, Suzuki R, Kato-Fukui Y, Kamiirisa K, Matsuo M, Kamijo SI, Kasahara M, Yoshioka H, Ogata T, ... ... Dobyns WB, et al. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans Nature Genetics. 32: 359-369. PMID 12379852 DOI: 10.1038/ng1009  0.64
Show low-probability matches.